Evidence map›Paper›PMID 18188946›Full record

ArticleAdvances in experimental medicine and biology2008

Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP).

Stephen P Daiger, Lori S Sullivan, Anisa I Gire, David G Birch, John R Heckenlively, Sara J Bowne

Abstract read
In one paragraph

Article in Advances in experimental medicine and biology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

19 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Gene panel sequencing in Brazilian patients with retinitis pigmentosa.International journal of retina and vitreous · 2017
    Article
  5. Article
  6. Molecular basis for photoreceptor outer segment architecture.Progress in retinal and eye research · 2016
    Review
  7. Article
  8. Article
  9. Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies.Genetics in medicine : official journal of the American College of Medical Genetics · 2015
    Review
  10. Article
  11. Article
  12. A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.Investigative ophthalmology & visual science · 2014
    Article
  13. Review
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Stephen P DaigerHuman Genetics Center, School of Public Health, and Dept. of Ophthalmology, The Univ. of Texas, Houston, TX, USA. stephen.p.daiger@uth.tmc.edu
Lori S Sullivan
Anisa I Gire
David G Birch
John R Heckenlively
Sara J Bowne

Funding

DNA LINKAGE STUDIES OF DEGENERATIVE RETINAL DISEASESR01EY007142 · NEI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI DAIGER, STEPHEN P · 1989 to 2017
$4.1M
RETINAL PATHOPHYSIOLOGY OF INFANTS AND ADULTSR01EY005235 · NEI · RETINA FOUNDATION OF THE SOUTHWEST · PI BIRCH, DAVID G · 1985 to 2005
$1.6M
Identifying the RP10 gene causing retinitis pigmentosaR01EY014170 · NEI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI DAIGER, STEPHEN P · 2002 to 2004
$881k
NEI NIH HHS EY005235NEI NIH HHS EY007142NEI NIH HHS EY014170NEI NIH HHS R01 EY005235NEI NIH HHS R01 EY007142NEI NIH HHS R01 EY014170
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Genes, DominantMutationChromosome MappingCohort StudiesDNA Mutational AnalysisFemaleGene DeletionGene DosageGenes, X-LinkedGenetic Diseases, X-LinkedGenetic LinkageGenetic TestingHumansMaleMembrane ProteinsPedigreeMembrane ProteinsPerilipin-2PLIN2 protein, human

Identifiers

PMID18188946
PMCPMC2582019

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.